Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies.
Epilepsy Behav Case Rep
; 11: 125-128, 2019.
Article
em En
| MEDLINE
| ID: mdl-31193310
ABSTRACT
PRRT2 pathogenic variants have been described in benign familial infantile epilepsy, episodic ataxia, paroxysmal kinesigenic dyskinesia, and hemiplegic migraines. We describe a patient with compound heterozygous variants, infantile epilepsy with status epilepticus, paroxysmal dyskinesia and episodic ataxia. Testing revealed a pathogenic PRRT2 duplication (c.649dupC), and a likely pathogenic missense variant (c.916G>A). His presentation meets the severe phenotypic category with a combination of at least 3 neurological symptoms seizures and status epilepticus, prolonged episodic ataxia, and paroxysmal dyskinesia. This further expands the clinical findings related to PRRT2, and suggests that compound heterozygous variants could confer a severe phenotype.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Epilepsy Behav Case Rep
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Estados Unidos